mandibulofacial dysostosis-microcephaly syndrome
autosomal dominant disease characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia,
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Summary
mandibulofacial dysostosis-microcephaly syndrome is a hereditary disorder[1]. It draws 17 Wikipedia views per month (hereditary_disorder category, ranking #15 of 25).[2]
Key Facts
- mandibulofacial dysostosis-microcephaly syndrome's instance of is recorded as hereditary disorder[3].
- mandibulofacial dysostosis-microcephaly syndrome's instance of is recorded as rare disease[4].
- mandibulofacial dysostosis-microcephaly syndrome's instance of is recorded as head and neck disease[5].
- mandibulofacial dysostosis-microcephaly syndrome's instance of is recorded as developmental defect during embryogenesis[6].
- mandibulofacial dysostosis-microcephaly syndrome's instance of is recorded as class of disease[7].
- mandibulofacial dysostosis-microcephaly syndrome is a type of autosomal dominant disease[8].
- mandibulofacial dysostosis-microcephaly syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[9].
- mandibulofacial dysostosis-microcephaly syndrome is a type of branchial arch or oral-acral syndrome[10].
- mandibulofacial dysostosis-microcephaly syndrome is a type of orofacial clefting syndrome[11].
- mandibulofacial dysostosis-microcephaly syndrome is a type of genetic syndromic intellectual disability[12].
- mandibulofacial dysostosis-microcephaly syndrome is a type of syndrome[13].
- mandibulofacial dysostosis-microcephaly syndrome's genetic association is recorded as EFTUD2[14].
- mandibulofacial dysostosis-microcephaly syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080196[15].
- mandibulofacial dysostosis-microcephaly syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0080196[16].
- mandibulofacial dysostosis-microcephaly syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79113[17].
- mandibulofacial dysostosis-microcephaly syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
Why It Matters
mandibulofacial dysostosis-microcephaly syndrome draws 17 Wikipedia views per month (hereditary_disorder category, ranking #15 of 25).[2] It is known by 11 alternative names across languages and contexts.[19]